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. 2021 Feb 18;29(9):1405–1417. doi: 10.1038/s41431-021-00821-0

Fig. 1. Scheme of BCAP31 gene showing the LoF and missense variants identified in published patients and those of our study.

Fig. 1

The variants identified in patients of our study are located above the gene, and those previously reported are underneath the gene. Reference transcript: NM_001139441.1. Exons are numbered according to Cacciagli et al. [7] and correspond to transcript ENST00000458587.8. Full splice variant denomination is NC_000023.11(NM_001139441.1):g.153723152C>T for P2 and P3; and NC_000023.11(NM_001139441.1):g.153702006C>T for P8.